ODCs

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Distal 22q11.2 microdeletion syndrome

1 OMIM reference -
3 associated genes
60 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 5

Autosomal dominant hyper-IgE syndrome

1 OMIM reference -
1 associated gene
38 signs/symptoms

Distal 22q11.2 microdeletion syndrome

Autosomal dominant hyper-IgE syndrome

BCR	(UniProt - OMIM)	STAT3	(UniProt - OMIM)
CRKL	(UniProt - OMIM)
MAPK1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	MAPK1	(0.85)	STAT3

Citations in the biomedical literature:

Distal 22q11.2 microdeletion syndrome		Autosomal dominant hyper-IgE syndrome
	Synonym(s): - Distal del(22)(q11.2) - Distal monosomy 22q11.2		Synonym(s): - AD-HIES - Autosomal dominant HIES - Autosomal dominant hyperimmunoglobulin E syndrome - Buckley syndrome - Hyperimmunoglobulin E syndrome type 1 - Hyperimmunoglobulin E-recurrent infection syndrome - Job syndrome

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Rare genetic disease - Rare immune disease - Rare skin disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

	Epidemiological data: (no data available)		Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: neonatal/infancy Average age of death: any age Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Deepset eyes / enophthalmos - Hyperextensible joints / articular hyperlaxity - Immunodeficiency / increased susceptibility to infections / recurrent infections - Repeat respiratory infections

Distal 22q11.2 microdeletion syndrome		Autosomal dominant hyper-IgE syndrome
	Very frequent - High arched eyebrows - Insterstitial / subtelomeric microdeletion / deletion - Intellectual deficit / mental / psychomotor retardation / learning disability - Philtrum flat / large / featureless / absent cupidon bows - Prematurity - Short stature / dwarfism / nanism - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia Frequent - Absent / small fingernails / anonychia of hands - Absent / small toenails / anonychia of feet - Central nervous system / peripheral nerves neoplasm / tumor / carcinoma / cancer - Clinodactyly of fifth finger - Common arterial trunk / truncal valve - External ear anomalies - Flat foot - Intrauterine growth retardation - Microcephaly - Pointed chin - Thin / hypoplastic ala nasi - Thin / retracted lips Occasional - Ankyloglossia / lingual synechiae - Aortic root dilatation / dilation / aneurysm - Aortic valve anomaly / incompetence / insufficiency / regurgitation / bicuspid - Atrial septal defect / interauricular communication - Blepharophimosis / short palpebral fissures - Bowed diaphysis / diaphyses / long bones - Branchial / posterior auricular / preauricular / cheek cysts / fistulae - Camptodactyly of some fingers - Choanal atresia - Encopresis / fecal incontinence - Facial structural asymmetry / facial hemiatrophy / facial hemihypertrophy - Failure to thrive / difficulties for feeding in infancy / growth delay - Flat cheek bones / malar hypoplasia - Gastric / pyloric stenosis - High nasal bridge - High vaulted / narrow palate - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Humour troubles / anxiety / depression / apathy / euphoria / irritability - Hyperactivity / attention deficit - Inguinal / inguinoscrotal / crural hernia - Long face - Long hand / arachnodactyly - Lordosis - Microstomia / little mouth - Obsessive-compulsive disorder - Oculomotor apraxia / dyspraxia - Recurrent urinary infections - Seizures / epilepsy / absences / spasms / status epilepticus - Sensorineural deafness / hearing loss - Short hand / brachydactyly - Syndactyly of toes - Terminal / third phalangeal bone of fingers hypoplasia - Tics / stereotypias - Ulnar deviation of fingers - Ventricular septal defect / interventricular communication - Wide space between 1st-2nd toes		Very frequent - Anomalies of skin, subcutaneous tissue and mucosae - Anomalies of the immunitary system - Atelectasia / pulmonary collapse - Autosomal dominant inheritance - Chronic skin infection / ulcerations / ulcers / cancrum - Cutaneous rash - Eczema - Ground-glass / reticular / alveolar / interstitial lung / pulmonary opacity - Pruritus / itching Frequent - Anomalies of teeth and dentition - Broad nose / nasal bridge - Chronic / relapsing otitis - Cough - Delayed dentition / eruption of teeth / lack of eruption of teeth - Dysplastic / thick / grooved fingernails - Eosinophils anomalies / hypereosinophilia - Face / facial anomalies - Follicular / erythematous / edematous papules / milium - Frontal bossing / prominent forehead - Gingivitis - Hair and scalp anomalies - Mutiple fractures / bone fragility - Onyxis / paronyxis / ungual inflammation - Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets - Scoliosis Occasional - Arterial aneurism (excluding aorta) - Autosomal recessive inheritance - Cellulitis / panniculitis / pseudocellulitis / inflammation of subcutaneous tissue - Craniostenosis / craniosynostosis / sutural synostosis - Fever / chilling - Lymphoma - Osteomyelitis / osteitis / periostitis / spondylodisciitis - Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment